Short-limb skeletal dysplasia with severe combined immunodeficiency

Preferred Label : Short-limb skeletal dysplasia with severe combined immunodeficiency;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Achondroplasia, so-called, and severe combined immunodeficiency; Slsd with scid;

Inheritance : Autosomal recessive;

Prefixed ID : 200900;

Details

Origin ID

200900;

UMLS CUI

C1860168;

Currated CISMeF NLP mapping
- Short-Limb skeletal dysplasia with severe combined immunodeficiency [MeSH concept]
- Short-Limb skeletal dysplasia with severe combined immunodeficiency [MeSH Supplementary Concept]
- Short-limb skeletal dysplasia with severe combined immunodeficiency [ICD-11 More detail]
- Short-limb skeletal dysplasia with severe combined immunodeficiency [ORDO Disease]
- Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) [SNOMED CT concept]
- achondroplasia and swiss type agammaglobulinemia [MeSH Supplementary Concept]
HPO term(s)
- Abnormal thorax morphology [HPO term]
- Agammaglobulinemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Death in childhood [HPO term]
- Early death [HPO term]
- Hypoplasia of the thymus [HPO term]
- Lymphopenia [HPO term]
- Metaphyseal chondrodysplasia [HPO term]
- Severe combined immunodeficiency [HPO term]
ORDO concept(s)
- Short-limb skeletal dysplasia with severe combined immunodeficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Short-Limb skeletal dysplasia with severe combined immunodeficiency [MeSH Supplementary Concept]
- Short-Limb skeletal dysplasia with severe combined immunodeficiency [MeSH concept]
- Short-limb skeletal dysplasia with severe combined immunodeficiency [ICD-11 More detail]
- Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) [SNOMED CT concept]

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